Photo by Robert Hood / Fred Hutch
A national marrow donor registry inspired by a Fred Hutch patient has facilitated more than 68,000 transplants. And, since 1975, more than 14,000 people have received transplants at the Hutch. Yet to truly fathom the depth of all those lives restored, sometimes it requires one patient’s story: Savanna Acosta was going to die. But she didn’t.
She was born Aug. 28, 2013, seemingly healthy. Her genes, however, hid a fatally flawed immune system that left her body defenseless against even the most common germs. The first symptom surfaced when she was 2 months old and began developing toe-to-head rashes.
Initially, doctors believed she had cradle cap. But when her third rash flared, physicians also spotted swollen lymph nodes and abnormalities in Savanna’s blood work. The diagnosis: severe combined immunodeficiency (SCID). Her body did produce T cells — the so-called “generals” of the immune system — but those cells didn’t function. In layman’s terms, she had “bubble boy disease” — the affliction made famous by David Vetter, a Texas boy who had SCID and inspired the making of the 1970s movie “The Boy in the Plastic Bubble.”
Photo by Bo Jungmayer / Fred Hutch
Savanna had one chance — a stem cell transplant. With an infusion of a donor’s healthy stem cells, her body could grow a new immune system built on the donor’s DNA. Without a transplant, she would likely suffer multiple organ infections and not survive beyond her first or second birthday, doctors familiar with the disease said.
For her family, the choice was simple.
“She’s my life,” said Savanna’s mother, Athena Gomez, a certified nursing assistant who lives in Lakewood, Washington. “It was the only way to fix it.”
Savanna’s family members were tested for possible matches of white blood cell proteins called human leukocyte antigens (HLA). A perfect match is key to reducing serious post-transplant complications. No familial matches were found.
Time was critical.
If Savanna received a transplant before she fell ill with a life-threatening infection, her physician said, the chances of survival were well above 95 percent.
The early days of bone marrow transplants
In the mid-1970s, BMTs were considered radical. The first successful transplant was done in Cooperstown, New York, in the late 1950s involving two identical twins, one with leukemia. Dr. E. Donnall Thomas performed the procedure. In 1975, Thomas moved his research to Fred Hutch, then a new facility with a new clinical focus: refining Thomas’ promising groundwork. The first patients being transplanted had advanced leukemia.
Photo by Susie Fitzhugh / Fred Hutch
“We had some [BMT] patients who went into remission — there was no leukemia there,” recalled Dr. Fred Appelbaum, who joined the Hutch in 1978. Today, he serves as the center’s deputy director and executive vice president.
Those first lives saved still stir Appelbaum. In early 2015, a woman who underwent a transplant at the Hutch 30 years ago returned to see him. She brought a photo album.
“These pictures through the years. … Her kids were really small then, now they’re grown. And you see the family pictures and the grandkids. That’s really nice.”
In 1979, Fred Hutch doctors hit another milestone, performing the first successful transplant with HLA-matching cells harvested from a donor who was not in the patient’s family. The recipient was Laura Graves, a 10-year-old girl with acute lymphocytic leukemia. Her matched donor was a Hutch laboratory technician.
The hunt for a donor
After Savanna's diagnosis, doctors allowed her to go home with her mom — with crucial caveats. Given her defective immune system, the baby had to be kept out of crowds, and only her family was allowed physical contact.
Gomez, 33, decided to confine herself and her daughter to a recreational vehicle outside her parents' home. It became their temporary cocoon.
"You know the movie 'The Boy in the [Plastic] Bubble'? She had to be [the] girl in a bubble," Gomez said.
Their stay lasted just one week. On the Monday before Thanksgiving 2013, Gomez awoke and thought her daughter looked seriously ill. She drove Savanna to Tacoma General Hospital. The baby's condition rapidly worsened.
"Her temp went down to 96.5 [degrees]. She was going into hypothermia. She turned purple. She was starting to shut down," Gomez said.
An ambulance transported Savanna to Seattle Children's Hospital where she was stabilized with IV fluids and antibiotics. Doctors told Gomez her daughter would remain hospitalized until the transplant.
But the donor hunt wasn't going perfectly.
At Seattle Cancer Care Alliance, Fred Hutch's treatment arm, search specialist Laurie Corner had found about 30 potential donors by combing bone marrow registries around the world. From their genetics, Corner determined some were only "suitable matches" for Savanna, meaning they matched nine out of 10 antigens, raising the odds of post-transplant complications. Some were not available to donate.
With time short and Savanna hospitalized, Corner asked one of the suitable matches to donate. Then, fresh information surfaced about a registered donor in New Brunswick, Canada. Pam Dicaire, a former flight attendant, was a 10-out-of-out-10 match to Savanna. She agreed to donate.
"The woman who called said it was an urgent case," Dicaire recalled. "It felt like the lottery. I mean, how in the world could I be a match for someone when her own relatives aren't? … Once I made the decision to do it, there was no turning back because [the recipient] could die.
The bone marrow registry
The notion of a bone marrow registry in North America grew out of that first successful unrelated donor transplant, performed at Fred Hutch in 1979.
Laura Graves' family was so inspired by the potential of unrelated transplants that it led an effort to launch a donor database. That list grew into the National Marrow Donor Program's Be The Match, which has managed the largest marrow registry in the world, spanning nearly 12.5 million potential donors, the organization states.
The early discoveries about bone marrow transplants, pioneered by Hutch scientists, provided the first definitive evidence that the immune system could fight cancer — that a healthy donor's stem cells could cure a transplant recipient of blood cancer. Researchers also discovered that non-cancerous diseases, like SCID, could be reversed.
Those gains helped spark the modern age of immunotherapy — a family of cancer treatments that harnesses the disease-fighting power of a patient's own immune system, said Dr. Gary Gilliland, Fred Hutch's president and director.
"We are on the threshold of amazing advances in the treatment of cancer," Gilliland said.
"The thing that I'm so excited about," Appelbaum said, "is to see if we really can take what now appears to be our ability to engineer T cells and combine it with things that take the brakes off the immune system to make a difference in solid tumors. … Some of the responses that we're seeing in melanoma — and in some cases of lung cancer and bladder cancer — are truly enduring."
Savanna's transplant and the road to recovery
Photo by Bo Jungmayer / Fred Hutch
Savanna was transplanted on Jan. 20, 2014.
Her body rallied. In late April, she was discharged from Seattle Children's.
"She wasn't crawling yet when we left. But when we got home, from the end of April to November , she learned how to crawl, walk and run," Gomez said.
By July 2015, Savanna had been weaned off of her post-transplant medications. Doctors were vaccinating her new immune system. She even met Dicaire, her donor, at Fred Hutch's seventh Bone Marrow Transplant Survivor Reunion, which drew close to two hundred survivors.
Savanna is so energetic she rarely naps, her mother said. She smiles while playing in the dirt outside with her cat, Tigger. She loves dancing. She enjoys car rides.
"She likes to help. If you're folding clothes, she'll try to fold with you. If she makes a mess on the floor, she'll get a towel to clean it up. She's pretty much a happy baby," Gomez said.
"If you look at her now, you wouldn't even know what she went through."